{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826682702",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 367,
          "referenceAllele": "R",
          "start": 366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012631",
      "geneNCBI_id": 9101,
      "geneSymbol": "USP8",
      "hgvs": [
        "NP_001269978.1:p.Arg367Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA7555704",
          "hgvs": "NM_001283049.1:c.1099C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS162911"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=693698[alleleid]",
        "alleleId": 693698,
        "preferredName": "NM_005154.5(USP8):c.1330C>T (p.Arg444Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/704010",
        "RCV": [
          "RCV002064746"
        ],
        "variationId": 704010
      }
    ]
  },
  "type": "amino-acid"
}